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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-152445517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=152445517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 152445517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001376818.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_021038.5",
"protein_id": "NP_066368.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 382,
"cds_start": 785,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324210.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021038.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000324210.10",
"protein_id": "ENSP00000319429.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 382,
"cds_start": 785,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021038.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324210.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000463374.5",
"protein_id": "ENSP00000418108.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 388,
"cds_start": 785,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463374.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000355460.6",
"protein_id": "ENSP00000347637.2",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 370,
"cds_start": 785,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355460.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ala205Val",
"transcript": "ENST00000493459.5",
"protein_id": "ENSP00000419347.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 343,
"cds_start": 614,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493459.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000492948.5",
"protein_id": "ENSP00000420103.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 342,
"cds_start": 785,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492948.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000485509.5",
"protein_id": "ENSP00000418876.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 340,
"cds_start": 785,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485509.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ala194Val",
"transcript": "ENST00000465907.6",
"protein_id": "ENSP00000417630.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 314,
"cds_start": 581,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465907.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ala194Val",
"transcript": "ENST00000485910.5",
"protein_id": "ENSP00000418427.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 302,
"cds_start": 581,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485910.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ala165Val",
"transcript": "ENST00000478535.1",
"protein_id": "ENSP00000418508.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 210,
"cds_start": 494,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478535.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001376818.1",
"protein_id": "NP_001363747.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 431,
"cds_start": 878,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376818.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001376819.1",
"protein_id": "NP_001363748.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 431,
"cds_start": 878,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376819.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "ENST00000868250.1",
"protein_id": "ENSP00000538309.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 431,
"cds_start": 878,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868250.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001387781.1",
"protein_id": "NP_001374710.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 413,
"cds_start": 878,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387781.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001387782.1",
"protein_id": "NP_001374711.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 413,
"cds_start": 878,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387782.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001387783.1",
"protein_id": "NP_001374712.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 413,
"cds_start": 878,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387783.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001387784.1",
"protein_id": "NP_001374713.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 401,
"cds_start": 878,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387784.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "ENST00000868248.1",
"protein_id": "ENSP00000538307.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 401,
"cds_start": 878,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868248.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "ENST00000970062.1",
"protein_id": "ENSP00000640121.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 401,
"cds_start": 878,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001376820.1",
"protein_id": "NP_001363749.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 400,
"cds_start": 785,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376820.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001376821.1",
"protein_id": "NP_001363750.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 400,
"cds_start": 785,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376821.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001376822.1",
"protein_id": "NP_001363751.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 400,
"cds_start": 785,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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],
"gene_symbol": "MBNL1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2899303138256073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.2085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.997,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376818.1",
"gene_symbol": "MBNL1",
"hgnc_id": 6923,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}